Glycogen-Storage Disease Type II (Acid Maltase Deficiency): Identification of a Novel Small Deletion (delCC482+483) in French Patients

1997 ◽  
Vol 235 (1) ◽  
pp. 138-141 ◽  
Author(s):  
Marc Nicolino ◽  
Jean Philippe Puech ◽  
Franck Letourneur ◽  
Michel Fardeau ◽  
Axel Kahn ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type Ii ◽  
Acid Maltase Deficiency ◽  
Small Deletion ◽  
Acid Maltase

Apparent normal leukocyte acid maltase activity in glycogen storage disease type II (Pompe's disease).

1980 ◽  
Vol 26 (13) ◽  
pp. 1914-1915 ◽  
Author(s):  
J L Potter ◽  
H B Robinson ◽  
J D Kramer ◽  
I A Schafter
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type Ii ◽  
Maltase Activity ◽  
Acid Maltase ◽  
Pompe's Disease ◽  
Peripheral Leukocytes

Abstract We present a case of glycogen storage disease type II (Pompe’s disease) with the classical clinical presentation and characteristic electrocardiographic changes of this disorder. An acid maltase (EC 3.2.1.20) determination in the peripheral leukocytes revealed normal activity; however, acid maltase activity was completely absent in a pre-mortem skeletal muscle biopsy. Post-mortem studies showed acid maltase activity to be absent in all tissues examined, including cultured skin fibroblasts. Massive glycogen deposition corresponded to the localization of the enzymic deficiency, except in the brain, where glycogen content was within the normal range. The acid maltase activity in mixed peripheral leukocytes was due to an isoenzyme of acid maltase in the granulocyte series. Antenatal diagnosis was accurate in a subsequent pregnancy, but discordance between enzyme activity in different cell lines in an individual with a genetic disease is a conceivable source of error in both prenatal and postnatal diagnoses.

A case of glycogen storage disease type II with double aortic arch

2000 ◽  
Vol 89 (7) ◽  
pp. 884-886 ◽  
Author(s):  
F Akalin ◽  
G Alper ◽  
F Ouztunç ◽  
E KotilogUlu ◽  
S Turan
Keyword(s):  
Aortic Arch ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Double Aortic Arch ◽  
Type Ii

scholarly journals Correction of glycogen storage disease type II by an adeno-associated virus vector containing a muscle-specific promoter

2005 ◽  
Vol 11 (6) ◽  
pp. 889-898 ◽  
Author(s):  
Baodong Sun ◽  
Haoyue Zhang ◽  
Luis M. Franco ◽  
Talmage Brown ◽  
Andrew Bird ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Virus Vector ◽  
Type Ii ◽  
Adeno Associated Virus
Sign in / Sign up

Export Citation Format

Share Document